title: Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
abstract: We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed which has not been described earlier in this trisomy. Although CES is a well known, but infrequently diagnosed disorder, we draw attention both to its clinical overlaps with other disorders and, in view of the clinical variability being identified within the 22q11 region, to the importance of careful molecular examination of proximal 22q in patients with suggestive clinical signs.
authors.affiliation: Departments of Medical Genetics Neonatal Pathology and Intensive Care Oral Pathology, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Anna
authors.initials: A
authors.lastname: Dobrzańska
authors.forename: Dorota
authors.initials: D
authors.lastname: Maksym-Gąsiorek
authors.forename: Wojciech
authors.initials: W
authors.lastname: Trzeciakowski
authors.forename: Anna
authors.initials: A
authors.lastname: Gutkowska
authors.forename: Dorota
authors.initials: D
authors.lastname: Olczak-Kowalczyk
authors.forename: Maria
authors.initials: M
authors.lastname: Gajdulewicz
authors.forename: Krystyna
authors.initials: K
authors.lastname: Spodar
authors.forename: Justyna
authors.initials: J
authors.lastname: Czech-Kowalska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D002892:Chromosomes, Human, Pair 22; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000503:physiopathology*; D008297:Male; D013577:Syndrome; D014314:Trisomy